Associated Papers
Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS.
Swieringa F et al.
Scientific Reports, 2020
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
Mendes MI et al.
Annals of Clinical and Translational Neurology, 2020
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.
Picard C et al.
Medicine, 2010
Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.
Witsch-Baumgartner M et al.
Human Mutation, 2005
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